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Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Prenatal US features: absent or hypoplastic tibiae and polydactyly are the key findings. Even in the absence of polydactyly, careful examination may reveal an absent or ‘triphalangeal’ thumb. Prenatal diagnosis has been made at 20.5 weeks.
Clinical Presentations and Diagnostic Imaging of VACTERL Association
Published in Fetal and Pediatric Pathology, 2023
Gabriele Tonni, Çağla Koçak, Gianpaolo Grisolia, Giuseppe Rizzo, Edward Araujo Júnior, Heron Werner, Rodrigo Ruano, Waldo Sepulveda, Maria Paola Bonasoni, Mario Lituania
Townes-Brocks syndrome, also known as REAR (Renal, Ear, Anal, Radial), is an autosomal dominant disorder with variable penetration due to mutation in the SALL1 gene, which codes for a transcription protein and has been mapped to chromosome 16q12. Townes-Brocks syndrome has some phenotypes that overlap those of VACTERL association, such as renal defects, external ear anomalies, hearing loss, imperforate anus, and polydactyly [67]. In patients diagnosed with Townes-Brocks syndrome, the most common limb defects are preaxial polydactyly and triphalangeal thumb, while imperforate anus is the most common anal anomaly. Genitourinary anomalies may also be present [67]. Townes-Brocks syndrome patients may also be affected by microtia, preauricular tags, or pits, whereas ear anomalies are not expected in VACTERL association (Figure 19). In contrast to VACTERL, Townes-Brocks syndrome does not manifest with vertebral anomalies or TEF.
Preaxial polydactyly of the foot
Published in Acta Orthopaedica, 2018
Elise B Burger, Martijn Baas, Steven E R Hovius, A Jeannette M Hoogeboom, Christianne A van Nieuwenhoven
22 patients never received a genetic test or test results were not documented. In 5 of the 6 patients with unilateral PPD type 1, genetic testing was never performed. In contrast, all patients with a triphalangeal thumb and preaxial polydactyly (PPD type 2) were tested for genetic mutations.